Homologous recombination among three intragene Alu sequences causes an inversion-deletion resulting in the hereditary bleeding disorder Glanzmann thrombasthenia.

PubWeight™: 1.03‹?› | Rank: Top 15%

🔗 View Article (PMC 1682221)

Published in Am J Hum Genet on July 01, 1993

Authors

L Li1, P F Bray

Author Affiliations

1: Department of Medicine, Johns Hopkins University Medical School, Baltimore, MD 21205.

Articles cited by this

Integrins: versatility, modulation, and signaling in cell adhesion. Cell (1992) 34.06

Ubiquitous, interspersed repeated sequences in mammalian genomes. Proc Natl Acad Sci U S A (1980) 9.48

Base sequence studies of 300 nucleotide renatured repeated human DNA clones. J Mol Biol (1981) 7.94

Platelet membrane glycoprotein IIb/IIIa: member of a family of Arg-Gly-Asp--specific adhesion receptors. Science (1986) 5.58

Exposure of platelet fibrinogen receptors by ADP and epinephrine. J Clin Invest (1979) 4.12

Protein sequence of endothelial glycoprotein IIIa derived from a cDNA clone. Identity with platelet glycoprotein IIIa and similarity to "integrin". J Biol Chem (1987) 3.87

Existence of at least three distinct Alu subfamilies. J Mol Evol (1987) 3.03

Glanzmann's thrombasthenia: the spectrum of clinical disease. Blood (1990) 3.02

Structure of the platelet membrane glycoprotein IIb. Homology to the alpha subunits of the vitronectin and fibronectin membrane receptors. J Biol Chem (1987) 2.93

Integration and excision of SV40 DNA from the chromosome of a transformed cell. Cell (1980) 2.90

A beta 3 integrin mutation abolishes ligand binding and alters divalent cation-dependent conformation. Science (1990) 2.42

The osteoclast functional antigen, implicated in the regulation of bone resorption, is biochemically related to the vitronectin receptor. J Cell Biol (1989) 2.27

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia. Proc Natl Acad Sci U S A (1986) 2.04

An abnormal platelet glycoprotein pattern in three cases of Glanzmann's thrombasthenia. Br J Haematol (1974) 2.01

Immunochemical and amino-terminal sequence comparison of two cytoadhesins indicates they contain similar or identical beta subunits and distinct alpha subunits. J Biol Chem (1987) 1.82

Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements. Proc Natl Acad Sci U S A (1990) 1.61

Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Alu-Alu recombination. J Biol Chem (1989) 1.47

Clustered illegitimate recombination events in mammalian cells involving very short sequence homologies. Nature (1983) 1.46

Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements. J Clin Invest (1988) 1.44

The Alu family repeat promoter has a tRNA-like bipartite structure. EMBO J (1983) 1.36

Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency. Am J Hum Genet (1990) 1.31

Platelet glycoprotein IIb. Chromosomal localization and tissue expression. J Clin Invest (1987) 1.31

Efficient surface expression of platelet GPIIb-IIIa requires both subunits. Blood (1989) 1.30

The genomic organization of platelet glycoprotein IIIa. J Biol Chem (1990) 1.29

Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene. J Biol Chem (1990) 1.28

Cloning of glycoprotein IIIa cDNA from human erythroleukemia cells and localization of the gene to chromosome 17. Blood (1988) 1.27

Analysis of an inversion within the human beta globin gene cluster. Nucleic Acids Res (1985) 1.18

The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. Proc Natl Acad Sci U S A (1991) 1.12

Physical linkage of the genes for platelet membrane glycoproteins IIb and IIIa. Proc Natl Acad Sci U S A (1988) 1.08

Organization of the gene for platelet glycoprotein IIb. Biochemistry (1990) 1.03

Structure and distribution of an Alu-type deletion mutation in Sandhoff disease. J Clin Invest (1990) 0.99

Identification of an abnormal gene for the GPIIIa subunit of the platelet fibrinogen receptor resulting in Glanzmann's thrombasthenia. Blood (1990) 0.98

A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia. J Clin Invest (1991) 0.93

Human platelets and megakaryocytes contain alternately spliced glycoprotein IIb mRNAs. J Biol Chem (1990) 0.89

Structural integrity of the glycoprotein IIb and IIIa genes in Glanzmann thrombasthenia patients from Israel. Blood (1988) 0.83

A vitronectin-receptor-related molecule in human placental brush border membranes. Biochem J (1991) 0.81

Molecular basis for Glanzmann's thrombasthenia (GT) in a compound heterozygote with glycoprotein IIb gene: a proposal for the classification of GT based on the biosynthetic pathway of glycoprotein IIb-IIIa complex. Blood (1992) 0.81

Alloantigenic composition of the endothelial vitronectin receptor. Blood (1988) 0.79

Articles by these authors

(truncated to the top 100)

A polymorphism of a platelet glycoprotein receptor as an inherited risk factor for coronary thrombosis. N Engl J Med (1996) 3.72

Clinical problem-solving. Through thick and thin. N Engl J Med (1998) 3.27

Platelet GP IIIa Pl(A) polymorphisms display different sensitivities to agonists. Circulation (2000) 1.91

Immobilized platelets support human colon carcinoma cell tethering, rolling, and firm adhesion under dynamic flow conditions. Blood (2000) 1.70

The coincidence of neuroblastoma and acute cerebellar encephalopathy. J Pediatr (1969) 1.56

Clues to the death of an Olympic champion. Lancet (1996) 1.54

VAMP8/endobrevin is overexpressed in hyperreactive human platelets: suggested role for platelet microRNA. J Thromb Haemost (2009) 1.54

Biogenesis of the platelet receptor for fibrinogen: evidence for separate precursors for glycoproteins IIb and IIIa. Proc Natl Acad Sci U S A (1986) 1.37

Gastroesophageal reflux in the "near miss" sudden infant death syndrome. J Pediatr (1978) 1.30

Cloning of glycoprotein IIIa cDNA from human erythroleukemia cells and localization of the gene to chromosome 17. Blood (1988) 1.27

The Pl(A2) polymorphism of integrin beta(3) enhances outside-in signaling and adhesive functions. J Clin Invest (2000) 1.25

Localization of a binding site for phosphatidylinositol 4,5-bisphosphate on human profilin. J Biol Chem (1995) 1.25

Integrin-dependent control of translation: engagement of integrin alphaIIbbeta3 regulates synthesis of proteins in activated human platelets. J Cell Biol (1999) 1.21

Human megakaryocytes and platelets contain the estrogen receptor beta and androgen receptor (AR): testosterone regulates AR expression. Blood (2000) 1.20

Occipitofrontal head circumference--an accurate measure of intracranial volume. J Pediatr (1969) 1.20

Induction of beta3-integrin gene expression by sustained activation of the Ras-regulated Raf-MEK-extracellular signal-regulated kinase signaling pathway. Mol Cell Biol (2001) 1.19

Platelet hyperreactivity generalizes to multiple forms of stimulation. J Thromb Haemost (2006) 1.15

Epstein-Barr nuclear antigen and viral capsid antigen antibody titers in multiple sclerosis. Neurology (1985) 1.12

Childhood gastroesophageal reflux. Neurologic and psychiatric syndromes mimicked. JAMA (1977) 1.10

Epstein-Barr virus infection and antibody synthesis in patients with multiple sclerosis. Arch Neurol (1983) 1.06

Brain changes in newborns from an intensive care unit. Dev Med Child Neurol (1974) 1.05

Familial myopathy with abnormal muscle mitochondria. Arch Neurol (1968) 1.02

R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome. Blood (1998) 1.01

Diagnostic delay in Duchenne's muscular dystrophy. JAMA (1982) 1.00

Gender differences in platelet GPIIb-IIIa activation. Thromb Haemost (1997) 1.00

Gene frequencies of the five major human platelet antigens in African American, white, and Korean populations. Transfusion (1995) 0.99

Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection. J Clin Invest (1996) 0.98

Antibodies against Epstein-Barr nuclear antigen (EBNA) in multiple sclerosis CSF, and two pentapeptide sequence identities between EBNA and myelin basic protein. Neurology (1992) 0.97

Talin distribution and phosphorylation in thrombin-activated platelets. J Cell Sci (1993) 0.95

Genetics of arterial prothrombotic risk states. Exp Biol Med (Maywood) (2001) 0.94

Single-strand conformation polymorphism analysis is a rapid and effective method for the identification of mutations and polymorphisms in the gene for glycoprotein IIIa. Blood (1993) 0.93

Isolation and characterization of a TATA-less promoter for the human beta 3 integrin gene. Blood (1994) 0.92

Overexpression of cyclin D1 in the Dami megakaryocytic cell line causes growth arrest. Blood (1995) 0.92

Neuroradiographic abnormalities in congenital cytomegalovirus infection. Pediatr Neurol (1989) 0.92

Metabolism of glycine in the nonketotic form of hyperglycinemia. Pediatr Res (1968) 0.92

MicroRNAs in platelet production and activation. J Thromb Haemost (2013) 0.91

Quantitation of soluble fibrinogen binding to platelets by fluorescence-activated flow cytometry. J Lab Clin Med (1994) 0.91

The human integrin beta3 gene is 63 kb and contains a 5'-UTR sequence regulating expression. Blood (1997) 0.90

A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness. J Pediatr (1973) 0.89

Menkes' Kinky hair syndrome: studies of copper metabolism and long term copper therapy. Pediatr Res (1977) 0.89

An association of phenylketonuria with ulegyria. Dis Nerv Syst (1969) 0.89

Neuroblastoma and myoclonic encephalopathy: two cases and a review of the literature. J Pediatr Surg (1973) 0.88

Megakaryocyte-targeted synthesis of the integrin beta(3)-subunit results in the phenotypic correction of Glanzmann thrombasthenia. Blood (2000) 0.88

The role of HLA antibodies in neonatal thrombocytopenia: a prospective study. Tissue Antigens (1996) 0.88

Multiple sclerosis and elevation of cerebrospinal fluid vaccinia virus antibody. Neurology (1975) 0.86

PlA2 polymorphism and efficacy of aspirin. Lancet (1998) 0.86

A monoclonal antibody (SZ21) specific for platelet GPIIIa distinguishes P1A1 from P1A2. Tissue Antigens (1995) 0.86

Significance of seizures in infants weighing less than 2,500 grams. Arch Neurol (1977) 0.86

Sex-linked neurodegenerative disease associated with monilethrix. Pediatrics (1965) 0.86

Platelet glycoprotein receptor IIIa polymorphism P1A2 and ischemic stroke risk: the Stroke Prevention in Young Women Study. Stroke (1998) 0.85

Mumps--a cause of hydrocephalus? Pediatrics (1972) 0.85

Human integrin beta3 gene expression: evidence for a megakaryocytic cell-specific cis-acting element. Blood (1998) 0.84

Quantitative isolation of RNA from human platelets. Thromb Res (1991) 0.83

The PlA polymorphism of glycoprotein IIIa functions as a modifier for the effect of estrogen on platelet aggregation. Arch Pathol Lab Med (2001) 0.82

Clinical and EEG manifestations of an unusual aphasic syndrome in children. Neurology (1974) 0.82

Human platelets contain a glycosylated estrogen receptor beta. Circ Res (2001) 0.82

Effects of integrelin, a platelet glycoprotein IIb/IIIa receptor antagonist, in unstable angina. A randomized multicenter trial. Circulation (1996) 0.82

Coagulation markers predicting cardiac transplant rejection. Transplantation (2001) 0.81

Ex vivo cultured megakaryocytes express functional glycoprotein IIb-IIIa receptors and are capable of adenovirus-mediated transgene expression. Blood (1999) 0.81

The relation of focal to diffuse epileptiform EEG dischares in genetic epilepsy. Arch Neurol (1965) 0.81

Relative value of three laboratory methods in the diagnosis of multiple sclerosis. Clin Chem (1981) 0.81

Platelet FcgammaRIIA His131Arg polymorphism and platelet function: antibodies to platelet-bound fibrinogen induce platelet activation. J Thromb Haemost (2003) 0.79

Priming of platelet alphaIIbbeta3 by oxidants is associated with tyrosine phosphorylation of beta3. Arterioscler Thromb Vasc Biol (1998) 0.79

Progressive neurological disease associated with chronic cytomegalovirus infection. Ann Neurol (1981) 0.78

Human platelets differentially concentrate estradiol, estrone and testosterone. J Thromb Haemost (2008) 0.78

Encephalopathy in young children with moderate chronic renal failure. Am J Dis Child (1980) 0.78

The carcinoembryonic antigen assay: Prognostic value in neural crest tumors. J Pediatr (1976) 0.78

The minor allele of GP6 T13254C is associated with decreased platelet activation and a reduced risk of recurrent cardiovascular events and mortality: results from the SMILE-Platelets project. J Thromb Haemost (2010) 0.78

CT scans in Menkes disease. Neurology (1979) 0.77

Platelet tyrosine kinases and fibrinogen receptor activation. Circ Res (1994) 0.77

Surface recruitment but not activation of integrin alpha IIb beta 3 (GPIIb-IIIa) requires a functional actin cytoskeleton. Arterioscler Thromb Vasc Biol (1995) 0.76

Low prevalence and assay discordance of "aspirin resistance" in children. Pediatr Blood Cancer (2008) 0.76

Carcinoembryonic antigen (CEA) assay. In diagnosis and management of cancer. Rocky Mt Med J (1975) 0.76

Carotid thrombosis following neck irradiation. Int J Radiat Oncol Biol Phys (1990) 0.76

Acute cerebellar encephalopathy as a remote complication of neuroblastoma. Calif Med (1972) 0.75

PlA1/A2 polymorphism of platelet glycoprotein IIIa and risk of cardiovascular disease. Lancet (1997) 0.75

Higher prevalence of GPIIIa PlA2 polymorphism in siblings of patients with premature coronary heart disease. Arch Pathol Lab Med (1999) 0.75

Molecular genotyping of fetal platelet antigens with uncultured amniocytes. Am J Obstet Gynecol (1995) 0.75

Fibrinogen and prothrombin binding is enhanced to the Pro33 isoform of purified integrin alphaIIbbeta3. J Thromb Haemost (2006) 0.75

Hereditary myopathy with abnormal muscle mitochondria. Trans Am Neurol Assoc (1967) 0.75

A unifying concept of idiopathic epilepsy. Monogr Hum Genet (1972) 0.75

Laboratory diagnosis of multiple sclerosis. Elevation of immunoglobulin G in cerebrospinal fluid. Rocky Mt Med J (1973) 0.75

Chemical detection of metachromatic leukodystrophy in disease and carrier states. Am J Dis Child (1971) 0.75

The clinical findings in a patient with nonketotic hyperglycinemia. Pediatr Res (1968) 0.75

Childhood heartburn mimicking neuropsychiatric disease. Trans Am Neurol Assoc (1976) 0.75

Uveitis and multiple sclerosis in an adolescent. Am J Dis Child (1972) 0.75

Refining the treatment of women with unstable angina--a randomized, double-blind, comparative safety and efficacy evaluation of Integrelin versus aspirin in the management of unstable angina. Clin Cardiol (1996) 0.75

Learning disorders. Calif Med (1973) 0.75

Biochemical changes in liver and blood underlying parenchymal damage of rat liver induced by a dose-dependent effect of drugs before and after development of liver enlargement and nodular hyperplasia. Biochem Soc Trans (1976) 0.75

Intelligence, EEG and visual evoked potentials in centrencephalic epilepsy. Electroencephalogr Clin Neurophysiol (1971) 0.75

Congenital sensory neuropathy? Am J Dis Child (1970) 0.75

A quick method for diagnosing phenylketonuria by detection of urinary o-hydroxyphenylacetic acid. Clin Chem (1971) 0.75

Evaluation of central nervous system vaccinia antibody synthesis in multiple sclerosis patients. Neurology (1977) 0.75

Are we still abusing aspirin? Arch Intern Med (1998) 0.75

A modified concept of idiopathic epilepsy. Trans Am Neurol Assoc (1964) 0.75

The diagnostic value of dermatoglyphics in a defective delinquent with two extra chromosomes. Trans Am Neurol Assoc (1965) 0.75

A unifying concept of idiopathic epilepsy. Postgrad Med (1969) 0.75

Intelligence and EEG studies in families with idiopathic epilepsy. JAMA (1969) 0.75

The coincidence of diffuse electroencephalographic spike-wave paroxysms and brain tumors. Neurology (1966) 0.75

The coincidence of neuroblastoma and acute cerebellar encephalopathy. Trans Am Neurol Assoc (1969) 0.75